Variant report

Variant	rs2072187
Chromosome Location	chr7:19747915-19747916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:19747828-19749044	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr7:19747814-19749025	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:19747717-19748887	HUVEC	blood vessel:	n/a	n/a
4	SIN3A	chr7:19747848-19748980	H1-hESC	embryonic stem cell:	n/a	n/a
5	RELA	chr7:19747905-19749028	GM19099	blood:	n/a	n/a
6	MAX	chr7:19747910-19749448	NB4	blood:	n/a	n/a
7	POLR2A	chr7:19747859-19749028	K562	blood:	n/a	n/a
8	MXI1	chr7:19747451-19749751	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:19747745-19749178	MCF10A-Er-Src	breast:	n/a	n/a
10	JUN	chr7:19747743-19749212	K562	blood:	n/a	n/a
11	POLR2A	chr7:19747521-19749005	MCF10A-Er-Src	breast:	n/a	n/a
12	REST	chr7:19747801-19749363	H1-neurons	neurons:	n/a	chr7:19748311-19748329 chr7:19748143-19748156
13	CHD1	chr7:19747902-19748728	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr7:19747807-19749356	SK-N-SH	brain:	n/a	chr7:19748775-19748794
15	POLR2A	chr7:19747744-19749060	GM12891	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:1498311..1499123-chr7:19747847..19748457,2	MCF-7	breast:
2	chr7:19744052..19746655-chr7:19747190..19748728,2	MCF-7	breast:
3	chr7:19740820..19745529-chr7:19747045..19749777,5	MCF-7	breast:
4	chr7:19745274..19751651-chr7:20366071..20371531,8	MCF-7	breast:
5	chr7:19737218..19740997-chr7:19747742..19750274,4	K562	blood:
6	chr7:19745589..19748453-chr7:19756261..19758585,2	K562	blood:
7	chr7:19746667..19748260-chr7:20349219..20351649,2	K562	blood:
8	chr7:19745703..19748379-chr7:20271088..20273693,2	K562	blood:
9	chr7:19743433..19745474-chr7:19746532..19749255,3	K562	blood:
10	chr7:19740790..19742645-chr7:19746038..19748708,3	MCF-7	breast:
11	chr7:19747017..19748692-chr7:20457391..20459961,2	MCF-7	breast:
12	chr7:6745135..6746643-chr7:19746904..19748412,2	K562	blood:

No data

Variant related genes	Relation type
MIR3146	TF binding region
ENSG00000265932	Chromatin interaction
ENSG00000105849	Chromatin interaction
ENSG00000164631	Chromatin interaction
ENSG00000105855	Chromatin interaction
ENSG00000164877	Chromatin interaction
ENSG00000271133	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10255236	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs10266162	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs1029554	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs10435066	0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10435067	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10486360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10486362	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11974000	0.95[ASN][1000 genomes]
rs12673842	0.88[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17141813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17141851	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2072184	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2072185	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2072186	0.86[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2158381	0.95[ASN][1000 genomes]
rs2189566	0.89[AFR][1000 genomes]
rs2285925	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2285927	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2285928	0.90[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs28545597	0.91[ASN][1000 genomes]
rs28587039	0.94[ASN][1000 genomes]
rs28756683	0.94[ASN][1000 genomes]
rs3948699	0.95[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs4721820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4721821	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58559474	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6961959	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs72591432	0.94[ASN][1000 genomes]
rs7802120	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv524807	chr7:19714156-19803925	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830918	chr7:19747674-19914527	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19734800-19748000	Weak transcription	Lung	lung
2	chr7:19736000-19748000	Weak transcription	Gastric	stomach
3	chr7:19738200-19748000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:19740000-19748000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:19743600-19748000	Weak transcription	Esophagus	oesophagus
6	chr7:19745800-19748000	Flanking Active TSS	Dnd41	blood
7	chr7:19746000-19748200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:19746000-19748400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:19746400-19748000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr7:19746400-19748200	Flanking Active TSS	HUVEC	blood vessel
11	chr7:19746400-19748800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:19746400-19748800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:19746400-19749200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:19746600-19748000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:19746600-19748000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:19746600-19748800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:19746600-19749000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr7:19746800-19748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:19746800-19748000	Flanking Active TSS	NH-A	brain
20	chr7:19746800-19748400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr7:19747000-19748000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:19747000-19748000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr7:19747000-19748000	Enhancers	Pancreas	Pancrea
24	chr7:19747000-19748000	Enhancers	Small Intestine	intestine
25	chr7:19747000-19748800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:19747000-19749000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr7:19747000-19749000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:19747000-19749000	Active TSS	NHLF	lung
29	chr7:19747200-19748000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:19747200-19748000	Weak transcription	Left Ventricle	heart
31	chr7:19747200-19748200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:19747200-19748400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr7:19747200-19748800	Active TSS	H1 Cell Line	embryonic stem cell
34	chr7:19747200-19748800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:19747200-19748800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:19747200-19748800	Active TSS	K562	blood
37	chr7:19747200-19749000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:19747200-19749000	Active TSS	Fetal Kidney	kidney
39	chr7:19747200-19749000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr7:19747200-19749000	Active TSS	GM12878-XiMat	blood
41	chr7:19747200-19749200	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr7:19747400-19748000	Flanking Active TSS	Fetal Brain Male	brain
43	chr7:19747400-19748000	Flanking Active TSS	Fetal Lung	lung
44	chr7:19747400-19748000	Enhancers	Spleen	Spleen
45	chr7:19747400-19748000	Active TSS	HepG2	liver
46	chr7:19747400-19748000	Flanking Active TSS	Osteobl	bone
47	chr7:19747400-19748200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr7:19747400-19748200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:19747400-19748200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr7:19747400-19748200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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